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Article

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Molecular genetics and genomics : MGG - 1 Dec 2014

Wang Yan, Yin Xiao-Juan, Han Tao, Peng Wei, Wu Hong-Lin, Liu Xin, Feng Zhi-Chun

Abstract excerpt

Treacher Collins syndrome (TCS) is the most common and well-known craniofacial disorder caused by mutations in the genes involved in pre-rRNA transcription, which include the TCOF1 gene. This study explored the role of TCOF1 mutations in Chinese patients with TCS. Mutational analysis of the TCOF1 gene was performed in three patients using polymerase chain reaction and direct sequencing. Among these three...

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Source

Identifiers

PMID: 24994558
DOI: 10.1007/s00438-014-0883-8

Genes

TCOF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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